To test the effectives of potential new drug therapies for NF1, genetic scientists at UAB are using specialized types of cells derived from people with the NF1 gene mutation. Induced pluripotent stem (iPS) cells are a type of cell that has been reprogrammed from an adult cell and can develop into virtually any type of cell in the body. This new approach to creating disease-specific stem cells from adult tissue – first pioneered in 2007 by Nobel Prize-winning scientist Shinya Yamanaka – holds great promise in providing medical researchers with a supply of disease-specific cells that can be used to test drug effectiveness and safety. Induced pluripotent stem cells are different from embryonic cells because they are derived from adult tissue rather than embryos. Also, these types of cells are distinct from adult stem cells, which occur naturally in small numbers in the human body.

Using cells from a biopsy taken from either skin or a neurofibroma of a patient with NF1, scientists can create iPS cells by treating them with specific genes that cause them to behave like undifferentiated stem cells. As a result, researchers have access to patient-specific cell lines that can be studied and used to test the effectiveness of potential new drug therapies for NF1. Instead of using models developed in mice or other organisms such as yeast, iPS cell technology allows human stem cells to be created from people with specific genetic mutations. Because the iPS cells contain a complete set of the genes that resulted in the disease, they represent a highly advanced model for studying NF1 and testing new drugs and treatments.

Learn more about the UAB Neurofibromatosis Program’s leading-edge research initiatives in the following areas: